Purpose : Shortness is the most frequent and quite disturbing characteristics of patients with Turner syndrome. The aim of this study was to evaluate the factors affecting final adult height(FAH) in these patients. METHODS : The study group was comprised of 19 patients who were diagnosed as Turner syndrome and attained FAH. We analyzed the influences of various factors on FAH in GH treated group with those in GH untreated group. Results : Nineteen patients were enrolled; thirteen received GH treatment and six did not. The mean duration of GH treatment was 24.3 months(range : 9 to 50 months), and the mean dosage of GH was 0.98+/-0.35IU/kg/wk in GH treated group. The mean growth velocity during GH treatment was 5.6+/-1.8 cm/yr, which was significantly higher than that during pretreatment period(P<0.05). In GH treated group, the mean chronological age, bone age, mean height, and height SD score at GH therapy were 13.7+/-1.7yr, 11.3+/-1.9yr, 129.7+/-7.9cm, and -4.1+/-1.1, respectively, which were not statistically different from those at diagnosis of GH untreated group. In GH treated group, the mean FAH and FAH SD score were 144.8+/-5.0cm, and -3.2+/-0.9, respectively, which showed no significant difference compared with those of GH untreated group. Analyzing the factor affecting FAH in all Turner girls of both groups together, parental height, chronological age, bone age, and bone age delay at diagnosis(or at the initiation of GH therapy) were not related to FAH. Height and height SD score at diagnosis(or at the initiation of therapy) were positively related to FAH(P<0.05, r=0.72). CONCLUSION : The results suggest that GH treatment dose not improve FAH in patients with Turner syndrome, despite increased growth velocity during GH treatment, which might come from intermittern GH therapy. This should be remained to be clarified with more Turner patients who attained FAH.
Adult* ; Diagnosis ; Female ; Growth Hormone ; Humans ; Parents ; Turner Syndrome*

Background: FISH can detect number and structural chromosome aberrations in DNA. FISH is new technique in Vietnam, we combine FISH with chromosome analysis to prenatal diagnosis Down syndrome and turner syndrome that are high rate in birth defect.Objectives: To detect Down syndrome and turner syndrome by using FISH technique with chromosome analysis from amniotic cell.Subjects and method: 14amniotic cells samples 15th - 20th week with high risk of birth defects. Advance using FISH and chromosome analysis from amniotic cell. Results: We obtained results as follow: - 14/14 samples: correspondence between FISH and chromosome analysis. \ufffd?Detected 2 Down syndrome (female. Trisomi 21) and 4 Turner syndrome (45, X). Conclusion: Detected Down syndrome and Turner syndrome by using FISH technique with chromosome analysis from amniotic cell.
Down Syndrome/ diagnosis ; Turner Syndrome/ diagnosis ; Predictive Value of Tests ; Prenatal Diagnosis ; In Situ Hybridization ; Fluorescence ;

PURPOSE: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). METHODS: Sixty-three girls with TS, who are attending pediatric endocrine clinics in Busan Paik Hosp., were studied. Urine and blood chemistry tests were performed in every visiting times. Renal ultrasonography was performed in all patients at the initial diagnosis, and intravenous pyelography, DMSA renal scan and renal CT were also performed, if necessary. RESULTS: Of the 63 patients, the karyotype showed 45,X in 32 (50.8%) , mosaicism in 22 (34.9%) and structural aberration in 9 (14.3%). The renal function at the latest visit was shown as normal in all patients. Nephrotic syndrome had developed in one patient. Hematuria was observed in seven patients. Renal anomalies were observed in 20 of the 63 TS (31.7%). Of the 32 TS patients with 45,X karyotype, 13 (40.6%) had renal anomalies, while these were found in 7 (22.6%) of 31 TS patients with mosaicism/structural aberration. But there was no significant statistical difference between two karyotype groups. CONCLUSION: Based on this study, most of the patients with TS do not have any significant problems related to renal function until early adulthood, regardless of renal malformation or hematuria.
Adult* ; Busan ; Chemistry ; Diagnosis ; Female ; Hematuria ; Humans ; Karyotype ; Mosaicism ; Nephrotic Syndrome ; Succimer ; Turner Syndrome* ; Ultrasonography ; Urography

Juxtaductal coarctation is usually distal to the origin of the left subclavian artery, occasionally the orifice of the subclavian artery is involved in the coarctation and partially obstructed. An anomalous origin of the right subclavian artery from the descending aorta below the coarcted segment is also occasionally encountered. Reversed vertebral artery flow to a subclavian artery arising at or below a coarctation may produce the subclavian steal syndrome. Rarely both subclavian arteries arise beyond the coarctation. These abnormal subclavian arteries are important in clinical diagnosis and treatment. We report a case of Turner syndrome with coarctation, which present as juxtaductal type and the left subclavian artery from the descending aorta below the coarcted segment with reversed vertebral artery flow to a subclavian artery producing the subclavian steal syndrome. Resecton of coarctation segment and end-to-end anastomosis was successfully performed after transfer of left subclavian artery to distal segment of descending aorta.
Aorta, Thoracic* ; Aortic Coarctation ; Diagnosis ; Subclavian Artery* ; Subclavian Steal Syndrome* ; Turner Syndrome* ; Vertebral Artery

Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.
Asian Continental Ancestry Group ; Early Diagnosis ; Growth Charts* ; Humans ; Methods ; Noonan Syndrome* ; Selection Bias ; Turner Syndrome*

PURPOSE:Short stature relative to the familial height potential is a universial characteristics of patients with Turner syndrome. growth hormone(GH)therapy has been shown to improve adult height in Turner syndrome. this study was done to determine the effects of GH treatment. Objects and METHOD:178 patients were enrolled by investigators at multiple center. Diagnosis of Turner syndrome confirmed by karyotype analysis. Growth rate of 121 patients who were given Recombinant human GH(0.6-1.0IU/kg/Week) by subcutaneous injection for 1-3 years were analized. Final adult height was defined by the growth rate which was less than 1cm/year. RESULTS:Height velocity increased significantly during GH treatment, particularly in the first year. mean height velocity of our Turner patients was 6.3(+/-.39)cm/year during the first year(121 patients), 5.3(+/-.72)cm/year during second year(92 patients), 4.6(+/-.62)cm/year during third year(72 patients) after GH treatment. Mean height velocity of our Turner patients without GH treatment was 3.8(+/-.47)cm/year. the final adult height of our Turner patients with GH trearment was 143.0(+/-.6)cm. the final adult height without GH trearment was 139.6(+/-.9)cm. CONCLUSION: Our data demonstrate that GH treatment seems effective in accelerating growth velocity and in improving final height in Turner syndrome. the final height of our Turner patients is not to be considered the best result, as most of them was received GH therapy late age.
Adult ; Diagnosis ; Female* ; Growth Hormone* ; Humans ; Injections, Subcutaneous ; Karyotype ; Research Personnel ; Turner Syndrome*

OBJECTIVE: To explore the genetic characteristics of idic(X)(p11.22) in Turner syndrome (TS). METHODS: Two fetuses suspected for sex chromosome abnormalities or ultrasound abnormalities were selected from Chengdu Women's and Children's Central Hospital in October 2020 and June 2020, and amniotic fluid samples were collected for G-banded chromosomal karyotyping analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH). RESULTS: The two fetuses were respectively found to have a karyotype of 45,X[47]/46,X,psu idic(X)(p11.2)[53] and 46,X,psu idic(X)(p11.2). CMA found that both had deletions in the Xp22.33p11.22 region and duplications in the p11.22q28 region. FISH showed that the centromeres in both fetuses had located on an isochromosome. CONCLUSION The combination of karyotyping analysis, FISH, and CMA is useful for the delineation of complex structural chromosomal aberrations. High-resolution CMA can accurately identify chromosomal breakpoints, which can provide a clue for elucidating the mechanism of chromosomal breakage and rearrangement.
Female ; Pregnancy ; Humans ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Sex Chromosome Aberrations ; Centromere ; Prenatal Diagnosis

Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease.
22q11 Deletion Syndrome ; Congenital Abnormalities ; Diagnosis ; Down Syndrome ; Follow-Up Studies ; Heart Defects, Congenital* ; Humans ; Mortality ; Noonan Syndrome ; Perioperative Care ; Risk Management ; Turner Syndrome ; Williams Syndrome

Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome. In this review, we discuss several diagnostic trials using recently developed genetic techniques and studies of physiological hormone replacement treatment over the last 5 years.
Diagnosis ; Estrogen Replacement Therapy ; Female ; Fetus ; Genetic Techniques ; Hormone Replacement Therapy ; Humans ; Mosaicism ; Prenatal Diagnosis ; Turner Syndrome* ; X Chromosome

OBJECTIVETo determine the value of fluorescence in situ hybridization (FISH) to the diagnosis of chromosome abnormality in genetic diseases and prenatal diagnosis.

METHODSFISH was performed using appropriate probes, including alpha-satellite DNA probe, chromosome sequence specific probe and whole chromosome painting probe, to examine the blood samples from 36 patients who were suspected of having chromosome abnormality by conventional cytogenetics, and to examine the amniocytes from 45 pregnant women who were in need of prenatal diagnosis.

RESULTSAmong 36 patients, the following karyotypes 45, X; 45, X/46, XX; 45, X/46, Xr(X); 46, X, i(Xq); 47, XXY; 46, XX, t(4;7); 47, XYY; 47, XXX; 47, XXY, inv(7); 46, XY, inv(7); 47, XX, +21 were detected by FISH. Of the fetuses of the 45 pregnant women, two fetuses with chromosomal abnormalities were diagnosed by FISH; the karyotypes were 47, XX, +18 and 46, XY, der(15) t(Y;15) respectively.

CONCLUSIONFISH can precisely and rapidly detect the chromosome abnormalities. It is a complement to the conventional cytogenetics and can be widely used in the diagnosis of genetic diseases and prenatal diagnosis.

Adult ; Amniocentesis ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Turner Syndrome ; diagnosis